Literature for peptidase M41.007: Afg3-like protein 2

(Topics flags: S Structure, M Mutation, P Specificity, K Knockout. To select only the references relevant to a single topic, click the link above. See explanation.)

2023
1. Colucci,F., Neri,M., Fortunato,F., Ferlini,A., Carrozzo,R., Torraco,A., Lamantea,E., Legati,A., Tecilla,G., Pugliatti,M. and Sensi,M.
   AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian Patients
   Cerebellum22, 1313-1319. PubMed  Europe PubMed DOI
2. Liu,Y., Liu,S., Tomar,A., Yen,F.S., Unlu,G., Ropek,N., Weber,R.A., Wang,Y., Khan,A., Gad,M., Peng,J., Terzi,E., Alwaseem,H., Pagano,A.E., Heissel,S., Molina,H., Allwein,B., Kenny,T.C., Possemato,R.L., Zhao,L., Hite,R.K., Vinogradova,E.V., Mansy,S.S. and Birsoy,K.
   Autoregulatory control of mitochondrial glutathione homeostasis
   Science382, 820-828. PubMed  Europe PubMed DOI
2022
3. Patron,M., Tarasenko,D., Nolte,H., Kroczek,L., Ghosh,M., Ohba,Y., Lasarzewski,Y., Ahmadi,Z.A., Cabrera-Orefice,A., Eyiama,A., Kellermann,T., Rugarli,E.I., Brandt,U., Meinecke,M. and Langer,T.
   Regulation of mitochondrial proteostasis by the proton gradient
   EMBO J41, e110476-e110476. PubMed  Europe PubMed DOI
2020
4. Baderna,V., Schultz,J., Kearns,L.S., Fahey,M., Thompson,B.A., Ruddle,J.B., Huq,A. and Maltecca,F.
   A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophy
   Acta Neuropathol Commun8, 93-93. PubMed  Europe PubMed DOI
5. Caporali,L., Magri,S., Legati,A., Del,D.o., Tagliavini,F., Balistreri,F., Nasca,A., La Morgia,C., Carbonelli,M., Valentino,M.L., Lamantea,E., Baratta,S., Schöls,L., Schüle,R., Barboni,P., Cascavilla,M.L., Maresca,A., Capristo,M., Ardissone,A., Pareyson,D., Cammarata,G., Melzi,L., Zeviani,M., Peverelli,L., Lamperti,C., Marzoli,S.B., Fang,M., Synofzik,M., Ghezzi,D., Carelli,V. and Taroni,F.
   ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy
   Ann Neurol88, 18-32. PubMed  Europe PubMed DOI
6. Charif,M., Chevrollier,A., Gueguen,N., Bris,C., Goudenège,D., Desquiret-Dumas,V., Leruez,S., Colin,E., Meunier,A., Vignal,C., Smirnov,V., Defoort-Dhellemmes,S., Drumare,B.o., Goizet,C., Votruba,M., Jurkute,N., Yu-Wai-Man,P., Tagliavini,F., Caporali,L., La,M.o., Carelli,V., Procaccio,V., Zanlonghi,X., Meunier,I., Reynier,P., Bonneau,D., Amati-Bonneau,P. and Lenaers,G.
   Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy
   Neurol Genet6, e428-e428. PubMed  Europe PubMed DOI
7. Pareek,G. and Pallanck,L.J.
   Inactivation of the mitochondrial protease Afg3l2 results in severely diminished respiratory chain activity and widespread defects in mitochondrial gene expression
   PLoS Genet16, e1009118-e1009118. PubMed  Europe PubMed DOI  K
2019
8. Mancini,C., Hoxha,E., Iommarini,L., Brussino,A., Richter,U., Montarolo,F., Cagnoli,C., Parolisi,R., Gondor Morosini,D.I., Nicolo,V., Maltecca,F., Muratori,L., Ronchi,G., Geuna,S., Arnaboldi,F., Donetti,E., Giorgio,E., Cavalieri,S., Di Gregorio,E., Pozzi,E., Ferrero,M., Riberi,E., Casari,G., Altruda,F., Turco,E., Gasparre,G., Battersby,B.J., Porcelli,A.M., Ferrero,E., Brusco,A. and Tempia,F.
   Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity
   Neurobiol Dis124, 14-28. PubMed  Europe PubMed DOI  M
9. Puchades,C., Ding,B., Song,A., Wiseman,R.L., Lander,G.C. and Glynn,S.E.
   Unique structural features of the mitochondrial AAA+ protease AFG3L2 reveal the molecular basis for activity in health and disease
   Mol Cell75, 1073-1085. PubMed  Europe PubMed DOI  S
10. Richter,U., Ng,K.Y., Suomi,F., Marttinen,P., Turunen,T., Jackson,C., Suomalainen,A., Vihinen,H., Jokitalo,E., Nyman,T.A., Isokallio,M.A., Stewart,J.B., Mancini,C., Brusco,A., Seneca,S., Lombes,A., Taylor,R.W. and Battersby,B.J.
    Mitochondrial stress response triggered by defects in protein synthesis quality control
    Life Sci Alliance2, e201800219-e201800219. PubMed  Europe PubMed DOI
11. Tulli,S., Del Bondio,A., Baderna,V., Mazza,D., Codazzi,F., Pierson,T.M., Ambrosi,A., Nolte,D., Goizet,C., Toro,C., Baets,J., Deconinck,T., DeJonghe,P., Mandich,P., Casari,G. and Maltecca,F.
    Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation
    J Med Genet56, 499-511. PubMed  Europe PubMed DOI  M
2018
12. Cesnekova,J., Rodinova,M., Hansikova,H., Zeman,J. and Stiburek,L.
    Loss of mitochondrial AAA proteases AFG3L2 and YME1L impairs mitochondrial structure and respiratory chain biogenesis
    Int J Mol Sci19, 3930-3930. PubMed  Europe PubMed DOI  K
13. Ding,B., Martin,D.W., Rampello,A.J. and Glynn,S.E.
    Dissecting substrate specificities of the mitochondrial AFG3L2 protease
    Biochemistry57, 4225-4235. PubMed  Europe PubMed DOI  P
14. Magri,S., Fracasso,V., Plumari,M., Alfei,E., Ghezzi,D., Gellera,C., Rusmini,P., Poletti,A., Di,B.e., Elia,A.E., Pantaleoni,C. and Taroni,F.
    Concurrent AFG3L2 and SPG7 mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentation
    Hum Mutat39, 2060-2071. PubMed  Europe PubMed DOI
2017
15. Colavito,D., Maritan,V., Suppiej,A., Del Giudice,E., Mazzarolo,M., Miotto,S., Farina,S., Dalle Carbonare,M., Piermarocchi,S. and Leon,A.
    Non-syndromic isolated dominant optic atrophy caused by the p.R468C mutation in the AFG3 like matrix AAA peptidase subunit 2 gene
    Biomed Rep7, 451-454. PubMed  Europe PubMed DOI  M
16. Eskandrani,A., AlHashem,A., Ali,E.S., AlShahwan,S., Tlili,K., Hundallah,K. and Tabarki,B.
    Recessive AFG3L2 mutation causes progressive microcephaly, early onset seizures, spasticity, and basal ganglia involvement
    Pediatr Neurol71, 24-28. PubMed  Europe PubMed DOI  M
17. Nibbeling,E.AR., Duarri,A., Verschuuren-Bemelmans,C.C., Fokkens,M.R., Karjalainen,J.M., Smeets,C.J., de,B.B.-B., van,d., V, Dooijes,D., Bampi,G.B., van,D.i., Brunt,E., Ippel,E., Kremer,B., Vlak,M., Adir,N., Wijmenga,C., Van,d., Franke,L., Sinke,R.J. and Verbeek,D.S.
    Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia
    Brain140, 2860-2878. DOI
18. Svenstrup,K., Nielsen,T.T., Aidt,F., Rostgaard,N., Duno,M., Wibrand,F., Vinther-Jensen,T., Law,I., Vissing,J., Roos,P., Hjermind,L.E. and Nielsen,J.E.
    SCA28: Novel mutation in the AFG3L2 proteolytic domain causes a mild cerebellar syndrome with selective type-1 muscle fiber atrophy
    Cerebellum16, 62-67. PubMed  Europe PubMed DOI  M
2016
19. Volonte,D., Liu,Z., Shiva,S. and Galbiati,F.
    Caveolin-1 controls mitochondrial function through regulation of m-AAA mitochondrial protease
    Aging (Albany NY)8, 2355-2369. PubMed  Europe PubMed DOI
20. Wang,S., Jacquemyn,J., Murru,S., Martinelli,P., Barth,E., Langer,T., Niessen,C.M. and Rugarli,E.I.
    The mitochondrial m-AAA protease prevents demyelination and hair greying
    PLoS Genet12, e1006463-e1006463. PubMed  Europe PubMed DOI  K
2015
21. Charif,M., Roubertie,A., Salime,S., Mamouni,S., Goizet,C., Hamel,C.P. and Lenaers,G.
    A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability
    Front Genet6, 311-311. PubMed  Europe PubMed DOI
22. Gorman,G.S., Pfeffer,G., Griffin,H., Blakely,E.L., Kurzawa-Akanbi,M., Gabriel,J., Sitarz,K., Roberts,M., Schoser,B., Pyle,A., Schaefer,A.M., McFarland,R., Turnbull,D.M., Horvath,R., Chinnery,P.F. and Taylor,R.W.
    Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28
    JAMA Neurol72, 106-111. PubMed  Europe PubMed DOI  M
23. Zühlke,C., Mikat,B., Timmann,D., Wieczorek,D., Gillessen-Kaesbach,G. and Bürk,K.
    Spinocerebellar ataxia 28: a novel AFG3L2 mutation in a German family with young onset, slow progression and saccadic slowing
    Cerebellum Ataxias2, 19-19. PubMed  Europe PubMed DOI
2014
24. Bahat,A., Perlberg,S., Melamed-Book,N., Lauria,I., Langer,T. and Orly,J.
    StAR enhances transcription of genes encoding the mitochondrial proteases involved in its own degradation
    Mol Endocrinol28, 208-224. PubMed  Europe PubMed DOI
25. Kondadi,A.K., Wang,S., Montagner,S., Kladt,N., Korwitz,A., Martinelli,P., Herholz,D., Baker,M.J., Schauss,A.C., Langer,T. and Rugarli,E.I.
    Loss of the m-AAA protease subunit AFG3L2 causes mitochondrial transport defects and tau hyperphosphorylation
    EMBO J33, 1011-1026. PubMed  Europe PubMed DOI  M
26. Lobbe,A.M., Kang,J.S., Hilker,R., Hackstein,H., Muller,U. and Nolte,D.
    A novel missense mutation in AFG3L2 associated with late onset and slow progression of spinocerebellar ataxia type 28
    J Mol Neurosci52, 493-496. PubMed  Europe PubMed DOI  M
27. Wang,X., Li,H., Zheng,A., Yang,L., Liu,J., Chen,C., Tang,Y., Zou,X., Li,Y., Long,J., Liu,J., Zhang,Y. and Feng,Z.
    Mitochondrial dysfunction-associated OPA1 cleavage contributes to muscle degeneration: preventative effect of hydroxytyrosol acetate
    Cell Death Dis5, e1521-e1521. PubMed  Europe PubMed DOI
2013
28. Ramelot,T.A., Yang,Y., Sahu,I.D., Lee,H.W., Xiao,R., Lorigan,G.A., Montelione,G.T. and Kennedy,M.A.
    NMR structure and MD simulations of the AAA protease intermembrane space domain indicates peripheral membrane localization within the hexaoligomer
    FEBS Lett587, 3522-3528. PubMed  Europe PubMed DOI
2012
29. Almajan,E.R., Richter,R., Paeger,L., Martinelli,P., Barth,E., Decker,T., Larsson,N.G., Kloppenburg,P., Langer,T. and Rugarli,E.I.
    AFG3L2 supports mitochondrial protein synthesis and Purkinje cell survival
    J Clin Invest122, 4048-4058. PubMed  Europe PubMed DOI
30. Hornig-Do,H.T., Tatsuta,T., Buckermann,A., Bust,M., Kollberg,G., Rotig,A., Hellmich,M., Nijtmans,L. and Wiesner,R.J.
    Nonsense mutations in the COX1 subunit impair the stability of respiratory chain complexes rather than their assembly
    EMBO J31, 1293-1307. PubMed  Europe PubMed DOI
2011
31. Pierson,T.M., Adams,D., Bonn,F., Martinelli,P., Cherukuri,P.F., Teer,J.K., Hansen,N.F., Cruz,P., Mullikin For The Nisc Comparative Sequencing Program, Blakesley,R.W., Golas,G., Kwan,J., Sandler,A., Fuentes Fajardo,K., Markello,T., Tifft,C., Blackstone,C., Rugarli,E.I., Langer,T., Gahl,W.A. and Toro,C.
    Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases
    PLoS Genet7, e1002325-e1002325. PubMed  Europe PubMed DOI  M
2010
32. Cagnoli,C., Stevanin,G., Brussino,A., Barberis,M., Mancini,C., Margolis,R.L., Holmes,S.E., Nobili,M., Forlani,S., Padovan,S., Pappi,P., Zaros,C., Leber,I., Ribai,P., Pugliese,L., Assalto,C., Brice,A., Migone,N., Durr,A. and Brusco,A.
    Missense mutations in the AFG3L2 proteolytic domain account for 1.5% of European autosomal dominant cerebellar ataxias
    Hum Mutat31, 1117-1124. PubMed  Europe PubMed DOI  M
33. Di Bella,D., Lazzaro,F., Brusco,A., Plumari,M., Battaglia,G., Pastore,A., Finardi,A., Cagnoli,C., Tempia,F., Frontali,M., Veneziano,L., Sacco,T., Boda,E., Brussino,A., Bonn,F., Castellotti,B., Baratta,S., Mariotti,C., Gellera,C., Fracasso,V., Magri,S., Langer,T., Plevani,P., Di Donato,S., Muzi-Falconi,M. and Taroni,F.
    Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28
    Nat Genet42, 313-321. PubMed  Europe PubMed DOI  M
34. Edener,U., Wöllner,J., Hehr,U., Kohl,Z., Schilling,S., Kreuz,F., Bauer,P., Bernard,V., Gillessen-Kaesbach,G. and Zühlke,C.
    Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation
    Eur J Hum Genet18, 965-968. PubMed  Europe PubMed DOI
35. Huang,K.
    Yet another gene mutation: dysfunction in mitochondrial protein quality control causing hereditary ataxia
    Clin Genet78, 420-422. PubMed  Europe PubMed DOI  M
36. Maltecca,F. and Casari,G.
    In vivo detection of oxidized proteins: a practical approach to tissue-derived mitochondria
    Methods Mol Biol648, 257-267. PubMed  Europe PubMed DOI
2009
37. Maltecca,F., Magnoni,R., Cerri,F., Cox,G.A., Quattrini,A. and Casari,G.
    Haploinsufficiency of AFG3L2, the gene responsible for spinocerebellar ataxia type 28, causes mitochondria-mediated Purkinje cell dark degeneration
    J Neurosci29, 9244-9254. PubMed  Europe PubMed DOI  M
38. Martinelli,P., La Mattina,V., Bernacchia,A., Magnoni,R., Cerri,F., Cox,G., Quattrini,A., Casari,G. and Rugarli,E.I.
    Genetic interaction between the m-AAA protease isoenzymes reveals novel roles in cerebellar degeneration
    Hum Mol Genet18, 2001-2013. PubMed  Europe PubMed DOI  M
2008
39. Maltecca,F., Aghaie,A., Schroeder,D.G., Cassina,L., Taylor,B.A., Phillips,S.J., Malaguti,M., Previtali,S., Guenet,J.L., Quattrini,A., Cox,G.A. and Casari,G.
    The mitochondrial protease AFG3L2 is essential for axonal development
    J Neurosci28, 2827-2836. PubMed  Europe PubMed DOI  K
2007
40. Koppen,M., Metodiev,M.D., Casari,G., Rugarli,E.I. and Langer,T.
    Variable and tissue-specific subunit composition of mitochondrial m-AAA protease complexes linked to hereditary spastic paraplegia
    Mol Cell Biol27, 758-767. PubMed  Europe PubMed DOI
2003
41. [YEAR:24-11-2003]Atorino,L., Silvestri,L., Koppen,M., Cassina,L., Ballabio,A., Marconi,R., Langer,T. and Casari,G.
    Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia
    J Cell Biol163, 777-787. PubMed  Europe PubMed DOI
1999
42. [YEAR:1-7-1999]Banfi,S., Bassi,M.T., Andolfi,G., Marchitiello,A., Zanotta,S., Ballabio,A., Casari,G. and Franco,B.
    Identification and characterization of AFG3L2, a novel paraplegin-related gene
    Genomics59, 51-58. PubMed  Europe PubMed DOI